Variant report

Variant	rs3759396
Chromosome Location	chr12:120909693-120909694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
2	chr12:120727396..120732537-chr12:120902983..120911236,13	K562	blood:
3	chr12:120909563..120912110-chr12:120924633..120927390,2	K562	blood:
4	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
5	chr12:120726465..120732980-chr12:120904767..120910057,7	MCF-7	breast:
6	chr12:120905836..120910535-chr12:120931936..120937198,12	MCF-7	breast:
7	chr12:120908111..120912110-chr12:120923123..120927882,5	K562	blood:
8	chr12:120907343..120910344-chr12:120965426..120968868,4	K562	blood:
9	chr12:120909586..120912181-chr12:120920227..120921811,2	K562	blood:
10	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
11	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
12	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
13	chr12:120879789..120885007-chr12:120906681..120910772,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110871	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000170855	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1048830	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1050187	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744752	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774549	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774551	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774553	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10774555	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774560	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10849757	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849758	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849759	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849766	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065132	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065149	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065150	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065151	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065154	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12309824	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12370495	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12371550	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12813930	0.87[ASN][1000 genomes]
rs12814055	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1563333	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2138251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2168319	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2233676	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235217	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235218	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393590	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213565	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742052	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3893104	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3916065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766966	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766969	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767897	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767903	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767904	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767910	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767911	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767912	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767914	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767916	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs509445	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs516479	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs523522	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs524735	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs546417	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55848094	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56029862	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs579919	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs585510	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs603574	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61945857	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs643372	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs651627	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs655530	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs670568	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs687873	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7136951	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71454645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308053	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7488320	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9040	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9795621	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs3759396	COQ5	cis	Nerve Tibial	GTEx
rs3759396	COQ5	cis	Artery Tibial	GTEx
rs3759396	COQ5	cis	Artery Aorta	GTEx
rs3759396	COQ5	cis	Muscle Skeletal	GTEx
rs3759396	COQ5	cis	Esophagus Muscularis	GTEx
rs3759396	COQ5	cis	Heart Left Ventricle	GTEx
rs3759396	COQ5	cis	Adipose Subcutaneous	GTEx
rs3759396	COQ5	cis	lung	GTEx
rs3759396	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs3759396	COQ5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120908200-120933200	Weak transcription	Aorta	Aorta
2	chr12:120908400-120909800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:120908400-120909800	Enhancers	Placenta	Placenta
4	chr12:120908400-120910200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:120908400-120910200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:120908400-120911600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:120908400-120911600	Weak transcription	NHEK	skin
8	chr12:120908400-120912000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:120908400-120912000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:120908400-120912000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:120908400-120912000	Weak transcription	A549	lung
12	chr12:120908400-120912200	Weak transcription	HUVEC	blood vessel
13	chr12:120908400-120912200	Weak transcription	Osteobl	bone
14	chr12:120908400-120912400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:120908400-120912400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:120908400-120912400	Weak transcription	Fetal Kidney	kidney
17	chr12:120908400-120912400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:120908400-120912400	Weak transcription	NHDF-Ad	bronchial
19	chr12:120908400-120912600	Weak transcription	Brain Anterior Caudate	brain
20	chr12:120908400-120917400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:120908400-120919400	Weak transcription	Right Ventricle	heart
22	chr12:120908400-120919800	Weak transcription	Fetal Intestine Large	intestine
23	chr12:120908400-120925800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:120908400-120926000	Weak transcription	HSMMtube	muscle
25	chr12:120908400-120928800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:120908400-120929000	Weak transcription	Psoas Muscle	Psoas
27	chr12:120908400-120932400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:120908400-120932400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:120908600-120909800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:120908600-120910200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:120908600-120910200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:120908600-120910200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:120908600-120910400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:120908600-120910400	Weak transcription	HMEC	breast
35	chr12:120908600-120910600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:120908600-120911800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:120908600-120911800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:120908600-120911800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:120908600-120911800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:120908600-120911800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:120908600-120911800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:120908600-120912000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:120908600-120912000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:120908600-120912200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:120908600-120912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:120908600-120912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:120908600-120912200	Weak transcription	HSMM	muscle
48	chr12:120908600-120912200	Weak transcription	NH-A	brain
49	chr12:120908600-120912400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:120908600-120912400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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